Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

ABSTRACT: Glycosphingolipids are ubiquitous constituents of eukaryotic plasma membranes, and their sialylated derivatives, gangliosides, are the major class of glycoconjugates expressed by neurons. Deficiencies in their catabolic pathways give rise to a large and well-studied group of inherited disorders, the lysosomal storage diseases. Although many glycosphingolipid catabolic defects have been defined, only one proven inherited disease arising from a defect in ganglioside biosynthesis is known. This disease, because of defects in the first step of ganglioside biosynthesis (GM3 synthase), results in a severe epileptic disorder found at high frequency amongst the Old Order Amish. Here we investigated an unusual neurodegenerative phenotype, most commonly classified as a complex form of hereditary spa

SUBMITTER: Harlalka GV 

PROVIDER: S-EPMC3859217 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature